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The spectrum of ZEB2 mutations causing the Mowat-Wilson syndrome in Japanese populations.
[hirschsprung disease]
Mowat-
Wilson
syndrome
(
MWS
)
is
a
multiple
congenital
anomaly
syndrome
characterized
by
moderate
or
severe
intellectual
disability
,
a
characteristic
facial
appearance
,
microcephaly
,
epilepsy
,
agenesis
or
hypoplasia
of
the
corpus
callosum
,
congenital
heart
defects
,
Hirschsprung
disease
,
and
urogenital
/
renal
anomalies
.
It
is
caused
by
de
novo
heterozygous
loss
of
function
mutations
including
nonsense
mutations
,
frameshift
mutations
,
and
deletions
in
ZEB
2
at
2
q
22
.
ZEB
2
encodes
the
zinc
finger
E
-
box
binding
homeobox
2
protein
consisting
of
1
,
214
amino
acids
.
Herein
,
we
report
13
nonsense
and
27
frameshift
mutations
from
40
newly
identified
MWS
patients
in
Japan
.
Although
the
clinical
findings
of
all
the
Japanese
MWS
patients
with
nonsense
and
frameshift
mutations
were
quite
similar
to
the
previous
review
reports
of
MWS
caused
by
nonsense
mutations
,
frameshift
mutations
and
deletions
of
ZEB
2
,
the
frequencies
of
microcephaly
,
Hirschsprung
disease
,
and
urogenital
/
renal
anomalies
were
small
.
Patients
harbored
mutations
spanning
the
region
between
the
amino
acids
55
and
1
,
204
in
wild-
type
ZEB
2
.
There
was
no
obvious
genotype-phenotype
correlation
among
the
patients
.
A
transfection
study
demonstrated
that
the
cellular
level
of
the
longest
form
of
the
mutant
ZEB
2
protein
harboring
the
p
.
D
1204
Rfs
*
29
mutation
was
remarkably
low
.
The
results
showed
that
the
3
'
-
end
frameshift
mutation
of
ZEB
2
causes
MWS
due
to
ZEB
2
instability
.
Diseases
Validation
Diseases presenting
"multiple congenital"
symptom
aniridia
cohen syndrome
hirschsprung disease
kabuki syndrome
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